microspherophakia-metaphyseal dysplasia syndrome
MONDO:0007998
Microspherophakia - metaphyseal dysplasia is a very rare syndrome associating bone dysplasia with micromelic dwarfism and eye defects.
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Directly mapped studies only · unique clinical trialsCurrent registry observations. Phase counts may overlap. Study start dates are not registry registration dates. Investigational interventions are not approved-treatment recommendations.
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Verloes Van Maldergem Marneffe syndrome
Verloes Van Maldergem Marneffe syndrome, also known as microspherophakia-metaphyseal dysplasia, is a very rare genetic disorder which is characterized by flattened and deformed vertebrae, developmental delay, dysplasia of the epiphyses and metaphyses, lens coloboma and dislocation, microspherophakia, nearsightedness, retinal detachment, and spinal stenosis. It has been described in a father and his son, and is thought to be inherited in an autosomal dominant manner. It's thought to be caused by mutations in the IRF6 gene.
Background only. Canonical identity remains MONDO; clinical-trial relationships come from ClinicalTrials.gov.Drugs being studied
Disease identity and terminology: MONDO. Trial relationships: ClinicalTrials.gov.